Varaico: Literature-Extracted Genetic Variants

Gene:SQSTM1
Variant:p.F406V
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SQSTM1

NM_003900.5:p.F406V

Associated Papers

Characteristics of Early Paget's Disease in SQSTM1 Mutation Carriers: Baseline Analysis of the ZiPP Study Cohort.

Cronin O et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2020

P62/SQSTM1 is a novel leucine-rich repeat kinase 2 (LRRK2) substrate that enhances neuronal toxicity.

Kalogeropulou AF et al.

The Biochemical Journal, 2018

Ubiquitylation of p62/sequestosome1 activates its autophagy receptor function and controls selective autophagy upon ubiquitin stress.

Peng H et al.

Cell Research, 2017

Ubiquitin recognition by the ubiquitin-associated domain of p62 involves a novel conformational switch.

Long J et al.

The Journal of Biological Chemistry, 2008

The p62 scaffold regulates nerve growth factor-induced NF-kappaB activation by influencing TRAF6 polyubiquitination.

Wooten MW et al.

The Journal of Biological Chemistry, 2005

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."